The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

S.J.C. Stevens*, C.T.R.M. Stumpel, K.E.M. Diderich, M.A. van Slegtenhorst, M.A. Abbott, C. Manning, J. Balciuniene, L.C. Pyle, J. Leonard, J.R. Murrell, R. van de Putte, I.A.L.M. van Rooij, A. Hoischen, P. Lasko, H.G. Brunner

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)183-189
Number of pages7
JournalClinical Genetics
Volume101
Issue number2
Early online date28 Oct 2021
DOIs
Publication statusE-pub ahead of print - 28 Oct 2021

Keywords

  • caudal regression syndrome
  • CDX2
  • homeobox gene
  • imperforate anus
  • persistent cloaca
  • sirenomelia
  • VACTERL
  • SACRAL AGENESIS
  • GROWTH
  • HOX
  • ELONGATION
  • PARAHOX

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